References
Query Results -- Details
MGI Accession ID: MGI:68387
J Number: J:20286
Other Accession IDs:
Title: Steel-Dickie mutation encodes a c-kit ligand lacking transmembrane and cytoplasmic domains.
Authors: Brannan CI; Lyman SD; Williams DE; Eisenman J; Anderson DM; Cosman D; Bedell MA; Jenkins NA; Copeland NG
Journal: Proc Natl Acad Sci U S A
Volume: 88
Issue: 11
Date: 1991 Jun 1
Year: 1991
Pages: 4671-4
Review Status: Peer Reviewed
Abstract:
Mice homozygous for the viable Sl allele steel-Dickie (Sld) are sterile, severely anemic, and black-eyed white. The nature of the Sld mutation was investigated at the molecular level and was found to be due to a 4.0-kilobase intragenic deletion in mast cell growth factor (MGF) genomic sequences, providing conclusive evidence that Sl encodes MGF. As a consequence of this deletion, Sld is only capable of encoding a soluble truncated growth factor that lacks both transmembrane and cytoplasmic domains. Northern analysis indicates that Sld mRNA is expressed at approximately wild-type levels in adult tissues, and yeast expression studies suggest that the Sld protein is as biologically active as wild-type soluble MGF. These studies provide a molecular basis for explaining the Sld phenotype, a description of a germ-line mutation in the transmembrane and cytoplasmic domains of a membrane-bound growth factor, and in vivo evidence for the importance of membrane-bound forms of growth factors in mammalian development.
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